Canonical Allele Identifier: CA2506248379
Community Standard Title: NM_145886.4(PIDD1):c.1804_1805del (p.Gly602ProfsTer26)
Gene: PIDD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.800874_800875del , CM000673.2:g.800874_800875del GRCh38
NC_000011.9:g.800874_800875del , CM000673.1:g.800874_800875del GRCh37
NC_000011.8:g.790874_790875del NCBI36
NG_023407.1:g.2395_2396del

Transcript Alleles

HGVS Amino-acid Change
NM_145886.4:c.1804_1805del MANE Select NP_665893.2:p.Gly602ProfsTer26
ENST00000347755.10:c.1804_1805del MANE Select ENSP00000337797.5:p.Gly602ProfsTer26
NM_145886.3:c.1804_1805del NP_665893.2:p.Gly602ProfsTer26
NM_145887.3:c.1804_1805del NP_665894.2:p.Gly602ProfsTer26
NM_145887.4:c.1804_1805del NP_665894.2:p.Gly602ProfsTer26
ENST00000347755.9:c.1804_1805del ENSP00000337797.5:p.Gly602ProfsTer26
ENST00000411829.6:c.1804_1805del ENSP00000416801.2:p.Gly602ProfsTer26
ENST00000524486.5:c.*1819_*1820del ENSP00000436146.1:n.*1819_*1820del
ENST00000525028.6:c.*1504_*1505del ENSP00000436342.1:n.*1504_*1505del
ENST00000527357.5:n.3131_3132del
ENST00000527812.1:n.332+461_332+462del
ENST00000531286.5:c.937_938del
ENST00000534525.5:n.2827_2828del
ENST00000534649.2:c.*1500_*1501del ENSP00000508317.1:n.*1500_*1501del
XM_005253005.3:c.1876_1877del XP_005253062.1:p.Gly626ProfsTer26
XM_005253005.5:c.1876_1877del XP_005253062.1:p.Gly626ProfsTer26
XM_005253006.3:c.1876_1877del XP_005253063.1:p.Gly626ProfsTer26
XM_005253006.5:c.1876_1877del XP_005253063.1:p.Gly626ProfsTer26
XM_005253007.3:c.1876_1877del XP_005253064.1:p.Gly626ProfsTer26
XM_005253007.4:c.1876_1877del XP_005253064.1:p.Gly626ProfsTer26
XM_005253008.3:c.1438_1439del XP_005253065.1:p.Gly480ProfsTer26
XM_005253008.5:c.1438_1439del XP_005253065.1:p.Gly480ProfsTer26
XM_011520209.1:c.1885_1886del XP_011518511.1:p.Gly629ProfsTer26
XM_011520209.3:c.1885_1886del XP_011518511.1:p.Gly629ProfsTer26
XM_011520210.1:c.1804_1805del XP_011518512.1:p.Gly602ProfsTer26
XM_011520210.3:c.1804_1805del XP_011518512.1:p.Gly602ProfsTer26
XM_011520211.1:c.1804_1805del XP_011518513.1:p.Gly602ProfsTer26
XM_011520211.3:c.1804_1805del XP_011518513.1:p.Gly602ProfsTer26
XM_011520212.1:c.1438_1439del XP_011518514.1:p.Gly480ProfsTer26
XM_011520212.2:c.1438_1439del XP_011518514.1:p.Gly480ProfsTer26
XM_011520213.1:c.937_938del XP_011518515.1:p.Gly313ProfsTer26
XM_011520213.2:c.937_938del XP_011518515.1:p.Gly313ProfsTer26
XM_017017993.2:c.865_866del XP_016873482.1:p.Gly289ProfsTer26
XR_001747921.1:n.1862_1863del
XR_001747922.2:n.2358_2359del
XR_930877.1:n.1862_1863del